ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) (rs2288563)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040222 SCV000051636 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040222 SCV000063913 benign not specified 2012-04-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040222 SCV000153260 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000040222 SCV000169259 benign not specified 2013-04-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000040222 SCV000315485 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245057 SCV000318254 benign Cardiovascular phenotype 2013-02-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373760 SCV000423403 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281810 SCV000423404 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334537 SCV000423405 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398430 SCV000423406 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304118 SCV000423407 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339841 SCV000423408 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475964 SCV000555162 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-08 criteria provided, single submitter clinical testing

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